Variant report

Variant	rs73956442
Chromosome Location	chr2:111531761-111531762
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs56238232	1.00[AMR][1000 genomes]
rs57934984	1.00[AMR][1000 genomes]
rs58287229	1.00[AMR][1000 genomes]
rs58796451	1.00[AMR][1000 genomes]
rs73954652	1.00[AMR][1000 genomes]
rs73954653	1.00[AMR][1000 genomes]
rs73954660	1.00[AMR][1000 genomes]
rs73956443	1.00[AMR][1000 genomes]
rs73956445	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956446	1.00[AMR][1000 genomes]
rs73956448	1.00[AMR][1000 genomes]
rs73956449	1.00[AMR][1000 genomes]
rs73956450	1.00[AMR][1000 genomes]
rs73956451	1.00[AMR][1000 genomes]
rs73956453	1.00[AMR][1000 genomes]
rs73956454	1.00[AMR][1000 genomes]
rs73956455	1.00[AMR][1000 genomes]
rs73956457	1.00[AMR][1000 genomes]
rs73956458	1.00[AMR][1000 genomes]
rs73956459	1.00[AMR][1000 genomes]
rs73956460	1.00[AMR][1000 genomes]
rs73956461	1.00[AMR][1000 genomes]
rs73956462	1.00[AMR][1000 genomes]
rs73956463	1.00[AMR][1000 genomes]
rs73956467	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1008758	chr2:111415136-111626467	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv535890	chr2:111415136-111626467	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv997829	chr2:111486961-111780537	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111527400-111531800	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr2:111527800-111532000	Enhancers	Fetal Lung	lung
3	chr2:111528800-111532000	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr2:111529000-111532000	Enhancers	Fetal Heart	heart
5	chr2:111529200-111532000	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr2:111530000-111531800	Enhancers	Fetal Muscle Leg	muscle
7	chr2:111530200-111531800	Enhancers	Rectal Smooth Muscle	rectum
8	chr2:111530400-111531800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:111530400-111531800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
10	chr2:111530600-111531800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:111530600-111532000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:111530800-111531800	Enhancers	Liver	Liver
13	chr2:111530800-111531800	Bivalent Enhancer	Fetal Stomach	stomach
14	chr2:111530800-111531800	Enhancers	Left Ventricle	heart
15	chr2:111530800-111532200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:111530800-111532800	Enhancers	Adipose Nuclei	Adipose
17	chr2:111531200-111531800	Enhancers	Colon Smooth Muscle	Colon
18	chr2:111531200-111566200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:111531400-111533800	Weak transcription	Lung	lung
20	chr2:111531600-111535200	Weak transcription	Aorta	Aorta
21	chr2:111531600-111535200	Weak transcription	Psoas Muscle	Psoas
22	chr2:111531600-111542400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:111531600-111543000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:111531600-111556800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:111531600-111558600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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